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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Generalized Epidermolysis Bullosa Simplex 1B
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Accession:DOID:9000523 term browser browse the term
Synonyms:exact_synonym: EBS1B;   Epidermolysis Bullosa Simplex Kobner;   Epidermolysis Bullosa Simplex, Koebner Type;   generalized intermediate epidermolysis bullosa simplex 1B
 primary_id: OMIM:131900


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Generalized Epidermolysis Bullosa Simplex 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr11:80,843,621...80,877,649
Ensembl chr11:80,846,755...80,877,636 		JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type OMIM
ClinVar		 PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        Genetic Skin Diseases 1850
          epidermolysis bullosa 94
            epidermolysis bullosa simplex 81
              epidermolysis bullosa simplex generalized type 14
                Generalized Epidermolysis Bullosa Simplex 1B 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              dermatitis 481
                bullous skin disease 165
                  vesiculobullous skin disease 152
                    epidermolysis bullosa 94
                      epidermolysis bullosa simplex 81
                        epidermolysis bullosa simplex generalized type 14
                          Generalized Epidermolysis Bullosa Simplex 1B 3
paths to the root